1. Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers–Danlos syndrome cohort. Issue 6 (24th April 2017) Authors: Ritter, Alyssa; Atzinger, Carrie; Hays, Brandon; James, Jeanne; Shikany, Amy; Neilson, Derek; Martin, Lisa; Weaver, Kathryn Nicole Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1467 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biotin‐thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next‐generation sequencing data. Issue 6 (12th April 2017) Authors: Ferreira, Carlos R.; Whitehead, Matthew T.; Leon, Eyby Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders. Issue 6 (13th April 2017) Authors: Barone, Rita; Fichera, Marco; De Grandi, Mariaclara; Battaglia, Marta; Lo Faro, Valeria; Mattina, Teresa; Rizzo, Renata Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A further family of Stromme syndrome carrying CENPF mutation. Issue 6 (13th April 2017) Authors: Ozkinay, Ferda; Atik, Tahir; Isik, Esra; Gormez, Zeliha; Sagiroglu, Mahmut; Sahin, Ozlem Atan; Corduk, Nergul; Onay, Huseyin Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Issue 6 (10th April 2017) Authors: Crosson, Jane; Srivastava, Siddharth; Bibat, Genila M.; Gupta, Siddharth; Kantipuly, Aditi; Smith‐Hicks, Constance; Myers, Scott M.; Sanyal, Abanti; Yenokyan, Gayane; Brenner, Joel; Naidu, Sakkubai R. Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Revisions to common rule regarding human research issued: Final version abandons proposal requiring consent for all biospecimens. Issue 6 (June 2017) Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Table of Contents, Volume 173A, Number 6, June 2017. Issue 6 (June 2017) Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cranial irradiation in childhood mimicking neurofibromatosis type II. Issue 6 (19th April 2017) Authors: Bokstein, Felix; Dubov, Tom; Toledano‐Alhadef, Hagit; Bernstein‐Molho, Rinat; Constantini, Shlomi; Evans, D. Gareth; Ben‐Shachar, Shay Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Publication schedule for 2017. Issue 6 (June 2017) Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Reanalyzing exomes may be worthwhile: Second look at sequence data leads to significant number of diagnoses. Issue 6 (June 2017) Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗